ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829982527
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000042718
RCV001557106
RCV002514167
RCV003224798
ClinVar Variation:
49458
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ile1605Thr
CA021368
NM_021055.3:c.4814T>C